ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy

被引:17
作者
Moitra, Karobi [1 ]
Garcia, Sonia [1 ,2 ]
Jaldin, Michelle [1 ,2 ]
Etoundi, Clementine [1 ]
Cooper, Donna [1 ]
Roland, Anna [1 ]
Dixon, Patrice [1 ]
Reyes, Sandra [1 ]
Turan, Sevilay [1 ]
Terry, Sharon [2 ]
Dean, Michael [3 ]
机构
[1] Trinity Washington Univ, Coll Arts & Sci, Dept Biol, 125 Michigan Ave NE, Washington, DC 20017 USA
[2] PXE Int, 4301 Connecticut Ave NW,Suite 404, Washington, DC 20008 USA
[3] NCI, Lab Translat Genom, DCEG, NIH, Gaithersburg, MD 20885 USA
关键词
pseudoxanthoma elasticum; mineralization; rare disease; next generation sequencing; patient advocacy; ECTOPIC MINERALIZATION; MUTATIONS; ORGANIZATIONS; BINDING;
D O I
10.3390/ijms18071488
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. PXE has high phenotypic variability, which may possibly be affected by several modifier genes. Disease advocacy organizations have had a pivotal role in bringing rare disease research to the forefront and in helping to sustain research funding for rare genetic diseases in order to help find a treatment for these diseases, pseudoxanthoma elasticum included. Because of these initiatives, individuals affected by these conditions benefit by being scientifically informed about their condition, having an effective support mechanism, and also by contributing to scientific research efforts and banking of biological samples. This rapid progress would not have been possible without the aid of disease advocacy organizations such as PXE International.
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页数:13
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